×
WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled: We are investigating the periodic unresponsiveness in the Registry. Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries. This temporarily affects the API and the UI.
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.23548060T= , CM000680.2:g.23548060T=
GRCh38
NC_000018.9:g.21128024T= , CM000680.1:g.21128024T=
GRCh37
NC_000018.8:g.19382022T=
NCBI36
NG_012795.1:g.43558A=
Transcript Alleles
HGVS
Amino-acid change
ENST00000269228.10:c.1703A=
MANE Select
ENSP00000269228.4:p.Asn568=
ENST00000269228.9:c.1703A=
ENSP00000269228.4:p.Asn568=
ENST00000540608.5:n.1617A=
ENST00000591051.1:c.836-2911A=
NM_000271.4:c.1703A=
NP_000262.2:p.Asn568=
XM_005258277.1:c.1754A=
XP_005258334.1:p.Asn585=
XM_005258278.3:c.1754A=
XP_005258335.1:p.Asn585=
XM_005258279.1:c.1703A=
XP_005258336.1:p.Asn568=
XM_006722479.2:c.1754A=
XP_006722542.1:p.Asn585=
XM_011526015.1:c.1289A=
XP_011524317.1:p.Asn430=
XM_005258278.5:c.1754A=
XP_005258335.1:p.Asn585=
XM_005258279.2:c.1703A=
XP_005258336.1:p.Asn568=
XM_006722479.3:c.1754A=
XP_006722542.1:p.Asn585=
XM_017025784.1:c.1754A=
XP_016881273.1:p.Asn585=
XM_017025785.1:c.1754A=
XP_016881274.1:p.Asn585=
XM_017025786.1:c.1703A=
XP_016881275.1:p.Asn568=
XM_017025787.1:c.1703A=
XP_016881276.1:p.Asn568=
NM_000271.5:c.1703A=
MANE Select
NP_000262.2:p.Asn568=